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ATXN10 encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. Additionally we are shipping Ataxin 10 Proteins (10) and Ataxin 10 Kits (9) and many more products for this protein.
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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia (show USP14 PLURAL_@14456@) type 10 expansions of ataxin-10 has been reported.
Single molecule real time sequencing of long tandem nucleotide repeats in spinocerebellar ataxia (show USP14 PLURAL_@14456@) ATXN10 reveals unique insight of repeat expansion structure in three unrelated patients.
This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 (show LY6E Antibodies) and SCA10 phenotype.
Inhibition of Aurora B (show AURKB Antibodies) or expression of the S12A mutant renders reduced interaction between Ataxin-10 and polo-like kinase 1 (Plk1 (show PLK1 Antibodies)), a kinase previously identified to regulate Ataxin-10 in cytokinesis.
Data suggest precursor mRNA for SCA10 (crystalized using two model AUUCU SCA10 repeats) exhibits the following conformation: the two asymmetric RNA molecules are antiparallel to each other and the interaction is stabilized by multiple hydrogen bonds.
the presence of repeat interruptions in SCA10 repeat expansion may have a role in epilepsy phenotype
The SCA10 pentanucleotide repeat expansion was not found among a group of Cypriot ataxia (show USP14 PLURAL_@14456@) patients. All had 10-19 ATTCT repeats. Controls had 11-20 repeats, with 14 being the most common number.
Plk1 (show PLK1 Antibodies) phosphorylates Ataxin-10 on Ser (show SIGLEC1 Antibodies) 77 and Thr (show TRH Antibodies) 82.
The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia (show USP14 PLURAL_@14456@) type 10.
Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2 (show TCTN2 Antibodies)).
Ataxin-10, encoded by the SCA10 gene, interacts with O-linked N-acetylglucosamine in vivo and is modified by O-linked glycosylation in the insulinoma (show RPS15 Antibodies) MIN6 cell line.
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.
, MGC97716 protein
, Spinocerebellar ataxia type 10 protein homolog
, brain protein E46 homolog
, spinocerebellar ataxia type 10 protein
, ataxin 10 homolog
, neuronal beta-catenin-like protein
, spinocerebellar ataxia 10 homolog
, spinocerebellar ataxia type 10 protein homolog
, brain protein E46
, spinocerebellar ataxia 10
, testis expressed gene 169
, spinocerbellar ataxia type 10 protein-like protein